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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Case Report
    Rita Padoan, Piercarlo Poli*, Luca Tonegatti, and Diego Falchetti
    Recurrent intestinal obstructions are frequently reported in Cystic Fibrosis patients at any age. The most frequent diagnoses are constipation and distal ileal obstruction syndrome, however in previously operated patients, post-surgical adhesions must be considered in the differential diagnosis of recurrent abdominal pain. We report the case and the follow-up of a 4-years-old Cystic Fibrosis child with recurrent intestinal obstruction after neonatal abdominal surgery for meconium ileus. The decision making process to treat symptoms is described. The chosen surgical procedure proved to prevent any further occlusive episode in a ten years follow up.
    Baruch Goldberg*
    This case report highlights the importance of working through a differential diagnosis when a child presents with arthritis or enthesitis, as Juvenile Idiopathic Arthritis (JIA) is a diagnosis of exclusion. A twelve-year-old girl presented to clinic with chronic arthralgias, most notably in her ankles. Some of her symptomatology was characteristic of inflammatory arthritis - morning stiffness and limp. However, the pain was also worse with activity, better with rest, and with occasional night awakenings. Her physical exam revealed no arthritis but she did have enthesitis with swelling, warmth and tenderness over her posterior-lateral malleolus. Nonsteroidal anti-inflammatory drug (NSAID) therapy was started and she had blood work to further investigate the etiology of her enthesitis. Diagnostic considerations were concerning for HLA B27 associated enthesitis related arthritis, psoriatic JIA, Inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Laboratory findings showed elevated ESR and CRP consistent with inflammation. HLA B27, Rheumatoid Factor and ANA were negative. Her blood count showed mild leukocytosis and anemia. Her differential revealed 17% atypical lymphocytes and 30% blasts. LDH was 251 u/l [normal range 98-192u/l] and uric acid was 6.9 mg/dl [normal range 2.5-7.0mg/dl]. Her peripheral smear showed increased circulating blasts and flow cytometry was consistent with B cell Acute Lymphoblastic Leukemia. The importance of this case is to remember that musculoskeletal symptoms may precede constitutional symptoms in children with leukemia. Thus, it is essential to rule out other differentials prior to diagnosing JIA, especially prior to initiation of steroid or immunosuppressive therapies.
    Research Article
    Adriane Muller Nakato*, Regina PGV Cavalcante da Silva, and Nelson A. Rosario Filho
    Background: Capnometry can reduce arterial blood sampling and allow fast and noninvasive assessments using end-tidal of carbon dioxide (EtCO2).
    Objectives: The aims of this study were to evaluate the correlation of partial pressure of arterial CO2 (PaCO2)levels and EtCO2, and to verify whether capnometry would be useful for noninvasive monitoring of CO2 levels in intubated premature infants with and without diffuse parenchymal lung diseases (DPLD).
    Methods: This study was conducted in premature infants admitted to the Neonatal Intensive Care Unit (NICU) from August 2014 to November 2016. EtCO2 levels were compared with PaCO2 levels, in intubated premature infants with and without DPLD. Both parameters were obtained daily until tracheal extubation. The correlation coefficient and degree of bias between them was determined.
    Results: Overall, 221 measurements of EtCO2 and PaCO2 levels were obtained from 51 neonates. Twenty-eight were obtained from neonates without DPLD (12.7%) and 193 from those with DPLD (87.3%). The most frequent cause of DPLD was respiratory distress syndrome (RDS) in 86.5%. There was a positive correlation between PaCO2 and EtCO2 levels (n = 221; r = 0.853; p < 0.0001) in the overall cohort. Both groups showed a good correlation between both parameters, without DPLD (mean bias = 0.21, SD, 7.05; 95% CI -13.61 14.05), and with DPLD (mean bias = 0.37, SD, 7.66; 95% CI -14.65 15.39).
    Conclusions: Capnometry is a useful noninvasive technique to monitor intubated premature infants. EtCO2 measurement may be a valid adjunctive parameter when titrating ventilator support.
    Review Article
    Ana Carolina Lobor Cancelier*, Daisson Trevisol, and Fabiana Schuelter-Trevisol
    Background: Childhood obesity is growing worldwide and brings concerns that overweight or obese children are more likely to become obese as adults. Early diagnosis is of utmost importance, and for that purpose, WHtR is easy to use and interpret by the primary care physicians.
    Objective: To examine the validity of the waist-to-height ratio as a tool for obesity screening in the pediatric population.
    Data sources: The search for articles was conducted in the following databases: Medline (via PubMed), Scientific Electronic Library Online (SciELO), CAPES Bank of Theses and Dissertations, and Cochrane Library.
    Study selection: The authors independently selected the studies in two steps, first by assessing the title and abstract, and then by reading the full text. Disagreements were resolved through consensus.
    Data extraction: The data were summarized in a table covering the study site, year of publication, mean age and standard deviation, total sample size and percentage of boys, cutoff points and gender-related sensitivity and specificity, and risk of bias.
    Results: The weighted average cutoff points of the examined studies were 0.459 ( 0.017) for girls and 0.473 ( 0.019) for boys, in the 618 year age group.
    Limitations: There was one study from a single country responsible for the largest number of samples, which might have affected the results because of ethnic factors.
    Conclusions: The WHtR cutoff point for children and adolescents aged 6 to 18 years should be lower than that determined for adults. Studies involving children from several countries are still needed to validate the appropriate cutoff point for childhood obesity diagnosis.
    Case Report
    Lynnette Mazur*, Jason Johnston, and Fatima Aly
    Our report summarizes the case of a girl presenting with symptoms suggestive of dermatomyositis after environmental exposure during Hurricane Harvey. Her symptoms were later diagnosed as contact dermatitis secondary to playing with slime, a substance sweeping the nation as a common toy. Given the increased exposure to slime in pediatric populations, we believe our report will appeal to pediatricians seeking more information about the effects of playing with slime and its possible sequelae. Our report will provide insight into ingredients used in various slime formulations as well as possible findings on physical exam. We were unable to find any reports concerning slime in review of current literature, but we did find a significant number of news reports pertaining to symptoms experienced in the pediatric population including but not limited to rashes, burns, and headaches.
    Late Diagnosed Fanconi Anemia and Practical Consequences
    8-year-old girl admitted for management of left hemi paresis. The CT scan supplemented with MRI angiography revealed ischemic lesions related to cerebral microangiopathy. The association of limb and kidney malformations, as well as the small size and pancytopenia had led us to anemia of fanconi.
    Research Article
    Thaizi Campos Barbosa*, Jonathan Souza, Matheus Morbeck Zica, Bharbara Karolline Rodrigues Silva, Francisco Winter dos Santos Figueiredo, Fernando Rodrigues Peixoto Quaresma, Fernando Adami, and Erika da Silva Maciel
    Introduction: Modern society is faced with limitations to practice physical activity, due to the lack of infrastructure, lack of time, lack of public safety and growth of sedentary activities that favor a sedentary lifestyle.
    Objective: Examined the relationship between motor performance and body composition of school children.
    Methods: A cross-sectional study was carried out with schoolchildren between 9 and 10 years of age from a public school in the city of Palmas, Tocantins, Brazil. We measured the Metabolic Equivalent, body composition and motor performance. For the analysis of association between variables, the Mann-Whitney test and Spearman correlation test were used.
    Results: The sample comprised 123 children with 65% being females, 57.72% was classified as appropriate regarding fat percentage and 62.61% as eutrophic for BMI. In relation to motor performance, 60.98% was below ideal. When the association between motor performance and gender was evaluated, it was observed that boys presented better indices than girls. Regarding the relationship between body composition and motor performance, it can be observed that the higher the body composition the lower the motor performance, mainly between cardiorespiratory endurance.
    Conclusion: The study showed a negative relationship between body composition and motor performance of schoolchildren in both sexes, thus, students with higher body weight and body fat have lower performance.
    DeeAnne Jackson, Pranaya Chilukuri, Chrystal Rutledge, Stacy Gaither, Kristine Sawyer, and Nancy M. Tofil*
    Objective: To provide training in the immediate response to newborn emergencies in a Level 1 newborn nursery, to assess the efficiency of this training for increasing the comfort level of pediatric residents and nurses in emergency recognition and response, and to identify systems issues that pose potential barriers to optimal patient care.
    Patients and methods: Two simulation cases were designed and implemented monthly. Case 1 was respiratory distress and apnea. Expected management included recognition of respiratory distress/apnea, calling for assistance, and effectively performing bag valve mask ventilation. Case 2 was a seizure related to hypoglycemia. Expected management included checking blood glucose level, inserting an intravenous catheter, and administering intravenous dextrose. Debriefing occurred after each scenario focusing on management, barriers to care and inter-professional communication. Pre- and post-training, participants completed surveys assessing comfort level with newborn medical emergencies.
    Results: Over a 10-month period, 40 learners (18 resident physicians (MD)/22 nurses (RN)) participated in training. There was a statistically significant improvement in perceived comfort level out of 5 from 3.74 0.7 to 4.48 0.42 (p <0.0001) for residents and nurses. Overall average confidence was higher for nurses than residents (4.26 0.75 versus 3.89 0.75; p = 0.02) both pre- and post-simulation. Learning themes included: emergency response process (n=11), teamwork focus (n=10), seizure management (n=10), and effective bag valve mask ventilation/troubleshooting (n=7). Training was successful in identifying nursery systems issues including a deficit in pediatrics resident knowledge of the hypoglycemia protocol and staff inability to locate the pediatric code cart and infant code button.
    Conclusions: Training of newborn nursery staff in the recognition and management of rare, newborn emergencies through simulation was successful in improving comfort level and identifying systems issues and strategies for improvement.
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